Canonical Allele Identifier: CA5305896

Gene: ABO

Linked Data

• dbSNP Id: rs782433687
• ExAC: 9:136132823 A / G
• gnomAD v2: 9-136132823-A-G
• gnomAD v4: 9-133257436-A-G
• MyVariant Identifiers: chr9:g.136132823A>G (hg19) ; chr9:g.133257436A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257436A>G , CM000671.2:g.133257436A>G	GRCh38
NC_000009.11:g.136132823A>G , CM000671.1:g.136132823A>G	GRCh37
NC_000009.10:g.135122644A>G	NCBI36
NG_006669.1:g.20232T>C
NG_006669.2:g.22780T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.376T>C
ENST00000647353.1:n.54-6284T>C
ENST00000651471.1:n.329+606T>C
ENST00000679909.1:c.28+17726T>C	ENSP00000506089.1:n.28+17726T>C
ENST00000453660.3:n.358T>C
ENST00000538324.2:c.344T>C	ENSP00000483018.1:p.Ile115Thr
ENST00000611156.4:c.344T>C	ENSP00000483265.1:p.Ile115Thr
NM_020469.2:c.347T>C	NP_065202.2:p.Ile116Thr
NM_020469.3:c.347T>C	NP_065202.2:p.Ile116Thr